Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies

We report on two brothers with mental deficiency, short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections, The younger brot her has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has hidrotic ectodermal dysplasia, juvenile autoim mune thyroiditis, hypolacrimation, photophobia, and optic atrophy. Striking resemblance exists between our patients and those previously reported by S chinzel [1980: Helv Paediatr Acta 35:243-251] and van Gelderen [1982: Am J Med Genet 13:383-387]. The fact that boys are born to young and healthy non consanguineous parents and there are no other affected relatives suggests a utosomal or X-linked recessive inheritance or parental germinal mosaicism f or a dominant mutation. Am. J, Med, Genet. 93:47-51, 2000, (C) 2000 Wiley-L iss, Inc.